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GALACTOSEMIA - A CASE REPORT

ARUN KUMAR V

Abstract


Galactosemia denotes the elevated level of galactose in the blood and is due to one of the following enzyme deficiencies - galactose-1-phosphate uridyl            transferase, galactokinase, uridine diphosphate galactose -4-epimerase.Of the 3, classical galactosemia i.e. the deficiency of the galactose-1-phospate uridyl transferase is a serious disease with the onset of symptoms in the second half of the 1st week of life. We report a case of galactosemia.


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References


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